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Wolman Disease: A Mimic of Infant Leukemia.

Thematic Areas : Medical Sciences

Publisher : J Pediatr Hematol Oncol

Source : J Pediatr Hematol Oncol, Volume 39, Issue 8, p.e489-e492 (2017)

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Keywords : biopsy, Bone Marrow, Diagnosis, Differential, hepatomegaly, Homozygote, Humans, infant, Leukemia, male, Radiography, Abdominal, Sequence Deletion, Sterol Esterase, Wolman Disease

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2017

Abstract : BACKGROUND: /bInfant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management./ppbOBSERVATION: /bAn infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion c.1180_1184del in the last exon (exon 10) of the lipase A (LIPA) gene./ppbCONCLUSIONS: /bHepatosplenomegaly and pallor resulting from nutritional deficiency or bone marrow involvement in Wolman disease can mimic infant leukemia.

Cite this Research Publication : K. G. Gopakumar, Thankamony, P., Nampoothiri, S., Bali, D., Raj, J., Vasudevan, J. A., and Nair, R. K., “Wolman Disease: A Mimic of Infant Leukemia.”, J Pediatr Hematol Oncol, vol. 39, no. 8, pp. e489-e492, 2017.

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